{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA163199",
  "communityStandardTitle": [
    "NM_001378183.1(PIEZO2):c.2134A>G (p.Met712Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=141336[alleleid]",
        "alleleId": 141336,
        "preferredName": "NM_001378183.1(PIEZO2):c.2134A>G (p.Met712Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/137633",
        "RCV": [
          "RCV000125482",
          "RCV001266820"
        ],
        "variationId": 137633
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.10789112T>C?assembly=hg19",
        "id": "chr18:g.10789112T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.10789114T>C?assembly=hg38",
        "id": "chr18:g.10789114T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777453",
        "rs": 587777453
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 10789114,
          "referenceAllele": "T",
          "start": 10789113
        }
      ],
      "hgvs": [
        "NC_000018.10:g.10789114T>C",
        "CM000680.2:g.10789114T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 10789112,
          "referenceAllele": "T",
          "start": 10789111
        }
      ],
      "hgvs": [
        "NC_000018.9:g.10789112T>C",
        "CM000680.1:g.10789112T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 10779112,
          "referenceAllele": "T",
          "start": 10779111
        }
      ],
      "hgvs": [
        "NC_000018.8:g.10779112T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 364649,
          "referenceAllele": "A",
          "start": 364648
        }
      ],
      "hgvs": [
        "NG_034005.1:g.364649A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005672"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2191,
          "referenceAllele": "A",
          "start": 2190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000383408.7:c.2134A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372900.4:p.Met712Val",
        "hgvsWellDefined": "ENSP00000372900.4:p.Met712Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824429"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2191,
          "referenceAllele": "A",
          "start": 2190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000686869.1:n.2191A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3115,
          "referenceAllele": "A",
          "start": 3114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000674853.1:c.2134A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501957.1:p.Met712Val",
        "hgvsWellDefined": "ENSP00000501957.1:p.Met712Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674853.1:c.2134A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001378183.1:c.2134A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501957.1:p.Met712Val"
          },
          "RefSeq": {
            "hgvs": "NP_001365112.1:p.Met712Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2134,
          "referenceAllele": "A",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000302079.10:c.2134A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303316.6:p.Met712Val",
        "hgvsWellDefined": "ENSP00000303316.6:p.Met712Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255111"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2308,
          "referenceAllele": "A",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000383408.6:c.1981A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372900.3:p.Met661Val",
        "hgvsWellDefined": "ENSP00000372900.3:p.Met661Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2134,
          "referenceAllele": "A",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000503781.7:c.2134A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421377.3:p.Met712Val",
        "hgvsWellDefined": "ENSP00000421377.3:p.Met712Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2134,
          "referenceAllele": "A",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000580640.5:c.2134A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463094.1:p.Met712Val",
        "hgvsWellDefined": "ENSP00000463094.1:p.Met712Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386417"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2134,
          "referenceAllele": "A",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000582913.5:c.2134A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462115.1:p.Met712Val",
        "hgvsWellDefined": "ENSP00000462115.1:p.Met712Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387497"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 564,
          "referenceAllele": "A",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "ENST00000583325.1:c.121A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462560.1:p.Met41Val",
        "hgvsWellDefined": "ENSP00000462560.1:p.Met41Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387697"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109868",
      "coordinates": [
        {
          "allele": "G",
          "end": 2308,
          "referenceAllele": "A",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "NM_022068.3:c.2134A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071351.2:p.Met712Val",
        "hgvsWellDefined": "NP_071351.2:p.Met712Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2246,
          "referenceAllele": "A",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525723.1:c.2134A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524025.1:p.Met712Val",
        "hgvsWellDefined": "XP_011524025.1:p.Met712Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2246,
          "referenceAllele": "A",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525724.1:c.2134A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524026.1:p.Met712Val",
        "hgvsWellDefined": "XP_011524026.1:p.Met712Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092842"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2246,
          "referenceAllele": "A",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525725.1:c.2134A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524027.1:p.Met712Val",
        "hgvsWellDefined": "XP_011524027.1:p.Met712Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092843"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2246,
          "referenceAllele": "A",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525726.1:c.2134A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524028.1:p.Met712Val",
        "hgvsWellDefined": "XP_011524028.1:p.Met712Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092844"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2246,
          "referenceAllele": "A",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525727.1:c.2134A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524029.1:p.Met712Val",
        "hgvsWellDefined": "XP_011524029.1:p.Met712Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3131,
          "referenceAllele": "A",
          "start": 3130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525723.3:c.2134A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524025.1:p.Met712Val",
        "hgvsWellDefined": "XP_011524025.1:p.Met712Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3131,
          "referenceAllele": "A",
          "start": 3130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525724.3:c.2134A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524026.1:p.Met712Val",
        "hgvsWellDefined": "XP_011524026.1:p.Met712Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547985"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3131,
          "referenceAllele": "A",
          "start": 3130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525725.3:c.2134A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524027.1:p.Met712Val",
        "hgvsWellDefined": "XP_011524027.1:p.Met712Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3131,
          "referenceAllele": "A",
          "start": 3130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_011525726.3:c.2134A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524028.1:p.Met712Val",
        "hgvsWellDefined": "XP_011524028.1:p.Met712Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3092,
          "referenceAllele": "A",
          "start": 3091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XM_017025918.2:c.2095A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881407.1:p.Met699Val",
        "hgvsWellDefined": "XP_016881407.1:p.Met699Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3131,
          "referenceAllele": "A",
          "start": 3130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "XR_001753259.2:n.3131A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828742609",
      "coordinates": [
        {
          "allele": "G",
          "end": 3115,
          "referenceAllele": "A",
          "start": 3114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "NM_001378183.1:c.2134A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365112.1:p.Met712Val",
        "hgvsWellDefined": "NP_001365112.1:p.Met712Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721542",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674853.1:c.2134A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001378183.1:c.2134A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501957.1:p.Met712Val"
          },
          "RefSeq": {
            "hgvs": "NP_001365112.1:p.Met712Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA109868",
      "coordinates": [
        {
          "allele": "G",
          "end": 3115,
          "referenceAllele": "A",
          "start": 3114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "NM_022068.4:c.2134A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071351.2:p.Met712Val",
        "hgvsWellDefined": "NP_071351.2:p.Met712Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728563"
    }
  ],
  "type": "nucleotide"
}